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In all of the experiments, mice transplanted with expanded MDR1-transduced stem cells developed a myeloproliferative disorder characterized by high peripheral white blood cell counts and splenomegaly. | biomarker | {
"id": 23158,
"name": "TBC1D9",
"pos": [
59,
4
]
} | {
"id": "C0027022",
"name": "Myeloproliferative disease",
"pos": [
98,
27
]
} |
To elucidate the frequency of FIC1 (ATP8B1) and BSEP (ABCB11) mutations in Taiwanese children with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase (GGT) levels, we assessed 13 unrelated patients with infantile onset chronic intrahepatic cholestasis. | NA | {
"id": 2678,
"name": "GGT1",
"pos": [
171,
3
]
} | {
"id": "C0008372",
"name": "Intrahepatic Cholestasis",
"pos": [
247,
24
]
} |
Most interestingly, the cytokine IL-6, which does not influence adhesion-molecule expression on other cells, significantly upregulated melanocyte and melanoma cell ICAM-1 expression. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
33,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
64,
8
]
} |
HVEM naturally functions in immune signaling, and the gD-HVEM interaction alters innate signaling early after mucosal infection. | NA | {
"id": 8764,
"name": "TNFRSF14",
"pos": [
57,
4
]
} | {
"id": "C1698484",
"name": "Mucosal Infection",
"pos": [
110,
17
]
} |
The study had two treatment arms: (1) ATV/RTV 300/100 mg once daily or (2) ATV/RTV 400/100 mg once daily, both in combination with zidovudine/lamivudine 300/150 mg twice daily. | NA | {
"id": 4683,
"name": "NBN",
"pos": [
38,
3
]
} | {
"id": "C0206655",
"name": "Alveolar rhabdomyosarcoma",
"pos": [
28,
4
]
} |
Incidence of cytogenetic aberrations in two B lineage subpopulations in multiple myeloma patients analyzed by combination of whole-genome profiling and FISH. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
152,
4
]
} | {
"id": "C0026764",
"name": "Multiple Myeloma",
"pos": [
72,
16
]
} |
VEGF, HIF-1α expression and MVD as an angiogenic network in familial breast cancer. | NA | {
"id": 4597,
"name": "MVD",
"pos": [
28,
3
]
} | {
"id": "C0346153",
"name": "Breast Cancer, Familial",
"pos": [
60,
22
]
} |
In CAPS we found associations of common carotid artery (CCA)-IMT with 2 CX3CL1 (rs170364, rs614230) and 1 CX3CR1 (rs3732378) variants, and significant interactions of CX3CR1 rs11129820, rs3732378, and rs614230 variants with smoking and alcohol consumption in relation with CCA-IMT. | NA | {
"id": 6376,
"name": "CX3CL1",
"pos": [
72,
6
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
224,
7
]
} |
KIS depletion also enhanced erlotinib sensitivity in erlotinib-resistant EGFR-expressing triple-negative breast cancer cells. | NA | {
"id": 127933,
"name": "UHMK1",
"pos": [
0,
3
]
} | {
"id": "C3539878",
"name": "Triple Negative Breast Neoplasms",
"pos": [
89,
29
]
} |
With the induction of bladder inflammation by acute administration of cyclophosphamide, an exaggerated or prolonged bladder hyperreflexia and hindpaw and pelvic sensitivity were demonstrated in VIP(-/-) mice. | NA | {
"id": 27151,
"name": "CPAMD8",
"pos": [
194,
3
]
} | {
"id": "C0010692",
"name": "Cystitis",
"pos": [
22,
20
]
} |
Our study results show that ovarian fibromas, fibrothecomas, and leiomyomas have a similar immunophenotype (positive for CD56, WT1, ER-beta, and PR) to that of ovarian stromal cells, supporting an ovarian stromal origin for these neoplasms. | NA | {
"id": 4684,
"name": "NCAM1",
"pos": [
121,
4
]
} | {
"id": "C0016045",
"name": "fibroma",
"pos": [
36,
8
]
} |
Taken together, these data support CDC7 as a novel therapeutic target for TDP-43 proteinopathies, including FTLD-TDP and amyotrophic lateral sclerosis. | biomarker | {
"id": 8317,
"name": "CDC7",
"pos": [
35,
4
]
} | {
"id": "C2718017",
"name": "TDP-43 Proteinopathies",
"pos": [
74,
22
]
} |
Wild-type and Asbt-deficient (Slc10a2 (-/-) ) male mice were treated with azoxymethane (AOM) alone to examine the development of aberrant crypt foci, the earliest histological marker of colon neoplasia and a combination of AOM and dextran sulfate sodium to induce colon tumor formation. | NA | {
"id": 6555,
"name": "SLC10A2",
"pos": [
30,
7
]
} | {
"id": "C1879526",
"name": "Aberrant Crypt Foci",
"pos": [
129,
19
]
} |
To our knowledge, this is the first report implicating genetic variability in the A1AR with PTS, or any type of seizure disorder. | NA | {
"id": 5805,
"name": "PTS",
"pos": [
92,
3
]
} | {
"id": "C0014544",
"name": "Epilepsy",
"pos": [
112,
16
]
} |
The treatment with intrathecal p300 shRNA reversed CCI-induced mechanical allodynia and thermal hyperalgesia, and suppressed the expression of cyclooxygenase-2 (COX-2), a neuropathic pain-associated factor. | NA | {
"id": 2033,
"name": "EP300",
"pos": [
31,
4
]
} | {
"id": "C0027796",
"name": "Neuralgia",
"pos": [
171,
16
]
} |
Hyperleptinemia is developed in rodents by litter size reduction during lactation; adult rats from small litters become overweight, but their paraventricular nucleus (PVN) TRH synthesis is unchanged. | NA | {
"id": 7200,
"name": "TRH",
"pos": [
172,
3
]
} | {
"id": "C0497406",
"name": "Overweight",
"pos": [
120,
10
]
} |
Moreover, genotype 2/2 for IL1RN (intron 2) was associated with severe PD. | genomic_alterations | {
"id": 3557,
"name": "IL1RN",
"pos": [
27,
5
]
} | {
"id": "C0266929",
"name": "Chronic Periodontitis",
"pos": [
71,
2
]
} |
Understanding the mechanisms of Slit2-Robo1 inhibition of glioma cell invasion will foster new treatments for malignant gliomas. | biomarker | {
"id": 6091,
"name": "ROBO1",
"pos": [
38,
5
]
} | {
"id": "C0017638",
"name": "Glioma",
"pos": [
58,
6
]
} |
Evolution of urticaria pigmentosa into indolent systemic mastocytosis: abnormal immunophenotype of mast cells without evidence of c-kit mutation ASP-816-VAL. | NA | {
"id": 29974,
"name": "A1CF",
"pos": [
145,
3
]
} | {
"id": "C0272203",
"name": "Indolent Systemic Mastocytosis",
"pos": [
39,
30
]
} |
Age gender, route of infection, treatment, and baseline values for viral load and CD4+ and CD8+ cell counts were not associated with GNB3 genotypes (10 TT, 24 TC, 21CC). | NA | {
"id": 2784,
"name": "GNB3",
"pos": [
133,
4
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
67,
10
]
} |
There was increased expression of adhesion receptors (CD11c, CD29, CD36, CD44, CD49e, CD54), receptors involved in signal transduction and/or inflammation (CD13, CD45, CD53), and other markers (CD9, CD52, CD71, CD98, HLA Class I) on macrophages from ILD patients compared to the non-ILD group. | NA | {
"id": 1043,
"name": "CD52",
"pos": [
199,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
142,
12
]
} |
We previously showed that, amongst other growth factor receptors, TAM family receptors (Tyro3, Axl and Mer) are significantly overexpressed in schwannoma tissues. | NA | {
"id": 7301,
"name": "TYRO3",
"pos": [
88,
5
]
} | {
"id": "C0027809",
"name": "Neurilemmoma",
"pos": [
143,
10
]
} |
POU5F1/Oct-4 expression levels in tissues obtained from patients with sentinel lymph node (SLN) and non-SLN metastasis and in tissues obtained from patients without lymph node metastases were compared. | NA | {
"id": 6588,
"name": "SLN",
"pos": [
104,
3
]
} | {
"id": "C0686619",
"name": "Secondary malignant neoplasm of lymph node",
"pos": [
165,
21
]
} |
Multivariate analysis identified four factors independently associated with day-30 mortality: positive fluid balance in the first 24 h (odds ratio = 1.06, 95% CI = 1.01-1.12, P = 0.02), severe acute respiratory failure (odds ratio = 6.14<sub>,</sub> 95% CI = 1.04-36.15, P = 0.04), von Willebrand factor plasma level > 439 ng/ml (odds ratio = 9.7, 95% CI = 1.52-61.98, P = 0.02), and bacteremia (odds ratio = 6.98, 95% CI = 1.17-41.6, P = 0.03). | genomic_alterations | {
"id": 7450,
"name": "VWF",
"pos": [
294,
21
]
} | {
"id": "C0264490",
"name": "Acute respiratory failure",
"pos": [
193,
25
]
} |
These results shed light on the activation mechanism and how signal transmission arising from the extracellular domain of the T1R2 monomer of the sweet receptor leads to the perception of sweet taste. | genomic_alterations | {
"id": 80834,
"name": "TAS1R2",
"pos": [
126,
4
]
} | {
"id": "C0858600",
"name": "Taste sweet",
"pos": [
188,
11
]
} |
No indications of association were seen for glioblastoma, but for low-grade gliomas, the odds ratio under a dominant model was 0.56 (95% confidence interval [CI], 0.35-0.90) for IGF1 rs6220, 2.98 (95% CI, 1.65-5.38) for IGF1R rs2272037, and 1.60 (95% CI, 0.90-2.83) for IGF1R rs2016347. | genomic_alterations | {
"id": 3480,
"name": "IGF1R",
"pos": [
270,
5
]
} | {
"id": "C1621958",
"name": "Glioblastoma Multiforme",
"pos": [
44,
12
]
} |
Comparison of cleft subphenotypes with tooth agenesis and controls revealed borderline associations for CDH1 (p = .008) and AXIN2 (p = .01) with unilateral right CL/P with tooth agenesis. | NA | {
"id": 999,
"name": "CDH1",
"pos": [
104,
4
]
} | {
"id": "C4083050",
"name": "Tooth agenesis",
"pos": [
172,
14
]
} |
Augmented cardiac hypertrophy in response to pressure overload in mice lacking ELTD1. | NA | {
"id": 64123,
"name": "ADGRL4",
"pos": [
79,
5
]
} | {
"id": "C1383860",
"name": "Cardiac Hypertrophy",
"pos": [
10,
19
]
} |
Pin1 mRNA expression was found to be overexpressed in gastric cancer by using several datasets of Oncomine database analyzing. | NA | {
"id": 23037,
"name": "PDZD2",
"pos": [
0,
4
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
54,
14
]
} |
Studies have shown that the Nramp1 and H-2 genes are implicated in the control of Leishmania donovani infection in mice. | genomic_alterations | {
"id": 6556,
"name": "SLC11A1",
"pos": [
28,
6
]
} | {
"id": "C0023290",
"name": "Leishmaniasis, Visceral",
"pos": [
82,
29
]
} |
Clinically, NF1 is characterized by café-au-lait (CAL) spots, neurofibromas, freckling of the axillary or inguinal region, Lisch nodules, optic nerve glioma, and bone dysplasias. | NA | {
"id": 54751,
"name": "FBLIM1",
"pos": [
50,
3
]
} | {
"id": "C0005941",
"name": "Bone Diseases, Developmental",
"pos": [
162,
15
]
} |
In visceral adipose tissue from 30 men with severe obesity, the associations between LPL DNA methylation, HDL-C (r = -0.40; p = 0.03) and LPL mRNA levels (r = -0.61, p < 0.001) were confirmed. | NA | {
"id": 3936,
"name": "LCP1",
"pos": [
138,
3
]
} | {
"id": "C0028756",
"name": "Obesity, Morbid",
"pos": [
44,
14
]
} |
Adjustment for fibrinogen, C-reactive protein and known thrombophilic risk factors did not change the observed association of elevated factor VIIIc with thrombosis. | NA | {
"id": 1401,
"name": "CRP",
"pos": [
27,
18
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
15,
10
]
} |
The ACTH MC2 receptor showed a low expression in 15 of 18 AIMAHs samples, whereas several previously undescribed GPCR genes were found highly expressed in a subset of AIMAH, such as the receptors for motilin (MLNR; three of 18 AIMAHs) and γ-aminobutyric acid (GABBR1; five of 18 AIMAHs), and the α2A adrenergic receptor (ADRA2A; 13 of 18 AIMAHs), on which we focused our attention. | genomic_alterations | {
"id": 4295,
"name": "MLN",
"pos": [
200,
7
]
} | {
"id": "C1857451",
"name": "Acth-Independent Macronodular Adrenal Hyperplasia",
"pos": [
279,
5
]
} |
Moreover, this type of stimulation increased the levels of the antiapoptotic protein myeloid cell leukemia-1 (Mcl-1) and protected from chemotherapy-induced apoptosis, whereas induction of apoptosis and down-regulation of Mcl-1 was observed following stimulation with sol-IgM. | NA | {
"id": 4170,
"name": "MCL1",
"pos": [
222,
5
]
} | {
"id": "C4505222",
"name": "Sleep Onset Latency",
"pos": [
268,
3
]
} |
High baseline Bath Ankylosing Spondylitis Disease Activity Index (HR 0.9842 [95% CI 0.9708-0.9980]; P = 0.028) was associated with a lower risk of withdrawal in axial SpA. | genomic_alterations | {
"id": 3106,
"name": "HLA-B",
"pos": [
19,
22
]
} | {
"id": "C3203547",
"name": "Axial spondyloarthritis",
"pos": [
167,
3
]
} |
Heterozygous mutations of the human desmin gene on chromosome 2q35 cause hereditary and sporadic myopathies and cardiomyopathies. | genomic_alterations | {
"id": 1674,
"name": "DES",
"pos": [
36,
6
]
} | {
"id": "C0878544",
"name": "Cardiomyopathies",
"pos": [
112,
16
]
} |
We identified 27 cancer therapeutic drugs for which TP53 mutations conferred resistance; most of these drugs target DNA synthesis or topoisomerase and cause DNA damage. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
52,
4
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
17,
6
]
} |
In the present study, we investigated the association of genetic polymorphisms in vascular endothelial growth factor (VEGF), transforming growth factor beta (TGF-β), and interferon γ (IFN-γ) genes, which may be responsible for the hypoxia-induced VEGF-mediated neovascularization pathway for the pathogenesis of PDR. | NA | {
"id": 3458,
"name": "IFNG",
"pos": [
170,
12
]
} | {
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
261,
18
]
} |
The variables age ≥ 48 years, smoking and drinking can be predictors for head and neck cancer development; moreover, A313G GSTP1 polymorphism, GSTM1 and GSTT1 null genotypes can modulate the risk for this disease. | NA | {
"id": 2952,
"name": "GSTT1",
"pos": [
153,
5
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
42,
8
]
} |
By semiquantitative electron microscopy, a 3.5-fold increase of glomerular TGF-beta1/beta-actin mRNA ratio in the moderate sclerotic group (n = 23, p < 0.01) and a 1.5-fold increase in the mild sclerotic group (n = 22, p < 0.05) were observed when compared to the minimal sclerotic group (n = 12). | NA | {
"id": 60,
"name": "ACTB",
"pos": [
85,
10
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
189,
4
]
} |
The presence of multiple CXCR4(WHIM) mutations within individual WM patients may be indicative of targeted CXCR4 genomic instability. | NA | {
"id": 7852,
"name": "CXCR4",
"pos": [
107,
5
]
} | {
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
113,
19
]
} |
Patient spinal cord necropsy immunohistochemistry with SOD1 misfolding-specific antibodies revealed misfolded SOD1 in perikarya and motor axons of SOD1-familial ALS (SOD1-FALS), and in motor axons of R521C-FUS FALS and sporadic ALS (SALS) with cytoplasmic TDP43 inclusions. | NA | {
"id": 6647,
"name": "SOD1",
"pos": [
166,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
219,
8
]
} |
These results suggest that, at least in esophageal carcinomas, allelic loss or mutation of p73 may not be a main genetic event for the tumorigenesis as it is with p53. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
163,
3
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
40,
10
]
} |
This may represent a characteristic of this particular SDHB mutation, but may also be a reflection of the inclusion of relatively large numbers of asymptomatic mutation carriers in this family and adequate statistical correction for ascertainment bias. | NA | {
"id": 6390,
"name": "SDHB",
"pos": [
55,
4
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
147,
12
]
} |
To determine the ability of cyclin E to play a causative role in mammary tumorigenesis, regulatory sequences from the ovine beta-lactoglobulin gene were utilized to specifically target expression of human cyclin E to the mammary glands of pregnant and lactating mice. | NA | {
"id": 898,
"name": "CCNE1",
"pos": [
205,
8
]
} | {
"id": "C1512981",
"name": "Mammary Tumorigenesis",
"pos": [
65,
21
]
} |
Six pro-angiogenic miRNAs including miR-17-5p, miR-92a, miR-210, miR-20a, miR-18a, and miR-296 expressions were positively while 1 pro-angiogenic miRNA (miR-130a) was negatively correlated with tumor malignancy degree in GC patients. | biomarker | {
"id": 406919,
"name": "MIR130A",
"pos": [
153,
8
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
200,
10
]
} |
TNF treatment enhanced expression of TNF mRNA in astrocytoma cells but not in non-neoplastic astrocytes, and cell-associated or secreted TNF was detectable in any culture. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
137,
3
]
} | {
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
78,
14
]
} |
Recently, BRAF gene rearrangements were identified in over 20% of acinar-type neoplasms, which included both pure acinar cell carcinomas and mixed carcinomas with acinar differentiation, using next-generation sequencing-based platforms, providing a potential therapeutic target for patients with these neoplasms. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
10,
4
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
147,
10
]
} |
However, regulation of RECK under hypoxic microenvironment is largely unknown. | NA | {
"id": 8434,
"name": "RECK",
"pos": [
23,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
34,
7
]
} |
The HLA class II-related susceptibility to type I insulin-dependent diabetes mellitus (IDDM) is examined in 94 multiplex families sorted by the presence or absence of a DR4+ haplotype in at least one diabetic family member. | NA | {
"id": 8797,
"name": "TNFRSF10A",
"pos": [
169,
3
]
} | {
"id": "C0011854",
"name": "Diabetes Mellitus, Insulin-Dependent",
"pos": [
50,
35
]
} |
SCA3/MJD was the most common type of autosomal dominant SCA in mainland Chinese, accounting for 83 patients from 59 families (49.2%), followed by SCA2 [8 (6.7%)], SCA1 [7 (5.8%)], SCA6 [4 (3.3%)], SCA7 [1 (0.8%)], SCA8 (0%), SCA10 (0%), SCA12 (0%), SCA14 (0%), SCA17 (0%) and DRPLA (0%). | genomic_alterations | {
"id": 773,
"name": "CACNA1A",
"pos": [
180,
4
]
} | {
"id": "C0018790",
"name": "Cardiac Arrest",
"pos": [
56,
3
]
} |
CTCs were determined to be PD-L1-positive in 6/11 (54.4%) HNC and 11/17 (64.7%) NSCLC cases, respectively. | biomarker | {
"id": 29126,
"name": "CD274",
"pos": [
27,
5
]
} | {
"id": "C0278996",
"name": "Malignant Head and Neck Neoplasm",
"pos": [
58,
3
]
} |
Interleukin-17 stimulates the expression of IkappaB alpha mRNA and the secretion of IL-6 and IL-8 in glioblastoma cell lines. | biomarker | {
"id": 3576,
"name": "CXCL8",
"pos": [
93,
4
]
} | {
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
101,
12
]
} |
Its inhibitory effect on TH2 cytokine transcription suggests that increased 90K protein expression is an attempt to limit the ongoing inflammation in asthma. | NA | {
"id": 3959,
"name": "LGALS3BP",
"pos": [
76,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
134,
12
]
} |
It was the objective of this study to investigate the effect of endogenous TFPI levels on coagulation, inflammation and bacterial growth during S. pneumoniae pneumonia in mice. | NA | {
"id": 7035,
"name": "TFPI",
"pos": [
75,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
103,
12
]
} |
A lentiviral shRNA-vector was utilized to stably knockdown GOLPH3 in Eca-109 esophageal squamous cancer cells. | NA | {
"id": 64083,
"name": "GOLPH3",
"pos": [
59,
6
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
77,
10
]
} |
These results indicate that the presence of 18Tyr allele and 18Tyr/Tyr homozygosity in the UCH-L1 gene is associated with a reduced risk for development of sporadic PD in a Japanese population, supporting the previous observations on sporadic PD in Caucasian populations. | NA | {
"id": 7345,
"name": "UCHL1",
"pos": [
91,
6
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
234,
8
]
} |
The analyses provided no evidence that the embryonic or maternal NAT1 C1095 genotypes influence the risk of spina bifida independently, or through interactions with maternal use of multivitamins. | NA | {
"id": 1982,
"name": "EIF4G2",
"pos": [
65,
4
]
} | {
"id": "C0080178",
"name": "Spina Bifida",
"pos": [
108,
12
]
} |
In the infarct border zone, secretoneurin induced coronary angiogenesis, as shown by increased density of capillaries and arteries. | NA | {
"id": 7857,
"name": "SCG2",
"pos": [
28,
13
]
} | {
"id": "C0021308",
"name": "Infarction",
"pos": [
7,
7
]
} |
Genetic variation of the human glycine receptor subunit genes GLRA3 and GLRB and susceptibility to idiopathic generalized epilepsies. | genomic_alterations | {
"id": 2743,
"name": "GLRB",
"pos": [
72,
4
]
} | {
"id": "C0014548",
"name": "Epilepsy, Generalized",
"pos": [
110,
22
]
} |
LRPPRC exists in a high-molecular-weight complex, and it coimmunoprecipitates with SLIRP, a stem-loop RNA-binding protein. | NA | {
"id": 81892,
"name": "SLIRP",
"pos": [
83,
5
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
34,
6
]
} |
Magnesium (Mg) supplementation decreased blood pressure, ameliorated cardiac hypertrophy, protected against the development of Ang II-induced myocardial damage and increased serum ionized Mg2+ concentration (all variables P < 0.05). | NA | {
"id": 4589,
"name": "MUC7",
"pos": [
188,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
41,
14
]
} |
The KIAA1109-TENR-IL2-IL21 gene cluster, that encodes an interleukin (IL-21) that plays an important role in Th17 cell biology, is the 20th locus for which there is a genome-wide (P<or=5x10(-8)) level of support for association with RA. | genomic_alterations | {
"id": 50616,
"name": "IL22",
"pos": [
70,
5
]
} | {
"id": "C0003873",
"name": "Rheumatoid Arthritis",
"pos": [
236,
2
]
} |
Methylation analysis of hMLH1, CDKN2A/p16, and MGMT revealed specific methylation profiles for tubular adenomas, tubulovillous/villous adenomas, and colorectal cancers, supporting the use of these alterations in assessment of colorectal tumorigenesis. | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
31,
6
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
237,
13
]
} |
Impact of KRAS and EGFR gene mutations on recurrence and survival in patients with surgically resected lung adenocarcinomas. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
19,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
103,
20
]
} |
We analyzed 55 salivary MEC and 36 potential MEC mimics (24 Warthin tumors, 5 oncocytomas, 3 squamous cell carcinomas, 2 squamoid salivary duct carcinomas, 1 lymphoepithelial cyst, 1 Schneiderian carcinoma ex papilloma) for presence of the MECT1/MAML2 translocation by fluorescent in-situ hybridization (FISH) and real-time RT-PCR. | NA | {
"id": 84441,
"name": "MAML2",
"pos": [
246,
5
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
144,
10
]
} |
However, no significant differences in the expression of these E2A and Id-2 genes could be observed between myeloma cells and normal plasma cells. | NA | {
"id": 6929,
"name": "TCF3",
"pos": [
63,
3
]
} | {
"id": "C0026764",
"name": "Multiple Myeloma",
"pos": [
108,
7
]
} |
Blood samples were analyzed for protein C (PC); protein S; antithrombin (AT); activated PC resistance (APCR); lipoprotein (a) [Lp(a)]; lupus anticoagulant; anticardiolipin antibodies; and the methylenetetrahydrofolate reductase C677T (MTHFR), factor V G1619A, factor II G20210A (PT), plasminogen activator inhibitor-1 4G6755G, and tissue factor pathway inhibitor C536T mutations. | NA | {
"id": 5624,
"name": "PROC",
"pos": [
32,
9
]
} | {
"id": "C4321325",
"name": "Lupus anticoagulant -- finding",
"pos": [
135,
19
]
} |
Since the initial testing, the family has been confirmed to be a MEN-1 family as the mother has developed abdominal pain and an elevated serum pancreatic polypeptide and the younger brother an anterior pituitary tumor and recurrent HPT. | biomarker | {
"id": 5539,
"name": "PPY",
"pos": [
143,
22
]
} | {
"id": "C0020502",
"name": "Hyperparathyroidism",
"pos": [
232,
3
]
} |
Reduction of p11 with adeno-associated virus (AAV)-mediated RNA interference in the nucleus accumbens, but not in the anterior cingulate, of normal adult mice resulted in depression-like behaviors nearly identical to those seen in p11 knockout mice. | NA | {
"id": 17,
"name": "AAVS1",
"pos": [
46,
3
]
} | {
"id": "C0011581",
"name": "Depressive disorder",
"pos": [
171,
10
]
} |
Cystatin C colocalizes with amyloid-beta and coimmunoprecipitates with amyloid-beta precursor protein in sporadic inclusion-body myositis muscles. | NA | {
"id": 1471,
"name": "CST3",
"pos": [
0,
10
]
} | {
"id": "C0027121",
"name": "Myositis",
"pos": [
129,
8
]
} |
On the other hand, DRB1*0701, DQB1*0201 and DQA1*0201 were decreased in the multibacillary leprosy patients (MLP) compared to TT patients and controls, and DQB1*0503 was selectively decreased in TT patients, suggesting that these HLA alleles might play a role in modulating the immune response that determines the form of leprosy that develops in each patient. | NA | {
"id": 8048,
"name": "CSRP3",
"pos": [
109,
3
]
} | {
"id": "C1562585",
"name": "Leprosy, Multibacillary",
"pos": [
76,
22
]
} |
Effects of Tailored and ACT-Influenced Internet-Based CBT for Eating Disorders and the Relation Between Knowledge Acquisition and Outcome: A Randomized Controlled Trial. | biomarker | {
"id": 12,
"name": "SERPINA3",
"pos": [
24,
3
]
} | {
"id": "C0013473",
"name": "Eating Disorders",
"pos": [
62,
16
]
} |
Impact of XRCC2 Arg188His polymorphism on cancer susceptibility: a meta-analysis. | genomic_alterations | {
"id": 7516,
"name": "XRCC2",
"pos": [
10,
5
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
42,
6
]
} |
From this cohort, we developed case groups of women with a family history of breast cancer with BRCA1/2 deleterious mutations, with unclassified variant alterations, and with no detected mutation and matched these cases with sporadic controls from the same TM and PM cohort. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
96,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
225,
8
]
} |
Resistance to BRAF inhibition in BRAF-mutant colon cancer can be overcome with PI3K inhibition or demethylating agents. | genomic_alterations | {
"id": 5294,
"name": "PIK3CG",
"pos": [
79,
4
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
45,
12
]
} |
Furthermore, the CXCL13 expression in type AB thymoma patients with GMG was higher than those with Non-MG (P=0.003).There were no differences among expressions of CD4, CD25, Foxp3, and CXCL13 in type A and B3 thymoma patients, regardless of with OMG, GMG or Non-MG. | NA | {
"id": 4974,
"name": "OMG",
"pos": [
246,
3
]
} | {
"id": "C0040100",
"name": "Thymoma",
"pos": [
209,
7
]
} |
However, the function of Ror2 in noncanonical Wnt signaling resulting in cancer metastasis is largely unknown. | biomarker | {
"id": 4920,
"name": "ROR2",
"pos": [
25,
4
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
73,
6
]
} |
We used both cross-sectional and mixed-model longitudinal analyses of data from CF patients that were at least 12 years old to determine the influence on pulmonary function (percent predicted forced expiratory volume [FEV(1)]) of the CFTR gene genotype, gender, mucoid Pseudomonas aeruginosa (MPA) infection status, presence of total opsonic antibody to MPA, and, separately, the opsonic antibody activity specific to the mucoid exopolysaccharide (MEP) surface antigen. | NA | {
"id": 1514,
"name": "CTSL",
"pos": [
448,
3
]
} | {
"id": "C3160731",
"name": "Pulmonary function (finding)",
"pos": [
154,
18
]
} |
We used an in vitro dedifferentiation model, comparing human freshly isolated hip OA chondrocytes cultivated in monolayer during 1 day (type II, COL2A1 +; type X, COL10A1 + and type I collagen, COL1A1 -) or 14 days (COL2A1 -; COL10A1 - and COL1A1+). | NA | {
"id": 1280,
"name": "COL2A1",
"pos": [
216,
6
]
} | {
"id": "C0002793",
"name": "Anaplasia",
"pos": [
20,
17
]
} |
Cytochrome P450 1A1 (CYP1A1) is a key enzyme that metabolizes the cigarette toxin relevant to smoking-induced atherogenesis. | NA | {
"id": 1543,
"name": "CYP1A1",
"pos": [
21,
6
]
} | {
"id": "C1563937",
"name": "Atherogenesis",
"pos": [
110,
13
]
} |
To determine whether ATL can be a candidate for selective chemotherapy based on genetic alterations on chromosome 9p21, we analyzed the MTAP gene in 41 samples from ATL patients (27 acute type and 14 chronic type ATL) and 3 cell lines established from ATL patients. | genomic_alterations | {
"id": 4507,
"name": "MTAP",
"pos": [
136,
4
]
} | {
"id": "C0023493",
"name": "Adult T-Cell Lymphoma/Leukemia",
"pos": [
252,
3
]
} |
It has recently been reported that integration of a Merkel cell polyomavirus (MCPyV) in receptor tyrosine phosphates type G (PTPRG) gene occurs in MCC, and that viral infections are associated with epigenetic silencing of tumor suppressor genes (TSG) in cancer. | NA | {
"id": 57045,
"name": "TWSG1",
"pos": [
246,
3
]
} | {
"id": "C0042769",
"name": "Virus Diseases",
"pos": [
161,
16
]
} |
Upon constitutive expression of SHH, breast cancer cells showed aggressive behavior and rapid xenograft growth characterized by highly angiogenic tumors that were spontaneously metastatic. | NA | {
"id": 6469,
"name": "SHH",
"pos": [
32,
3
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
64,
19
]
} |
Furthermore, a role for Atp8b3 in mouse sperm cell capacitation has been suggested, whereas deficiency of Atp10a and Atp10d leads to insulin resistance and obesity in mice. | NA | {
"id": 57194,
"name": "ATP10A",
"pos": [
106,
6
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
133,
18
]
} |
Clinical evaluation of the families segregating either TYR or OCA2 mutations showed nystagmus, photophobia, and loss of pigmentation in the skin or hair follicles. | NA | {
"id": 7299,
"name": "TYR",
"pos": [
55,
3
]
} | {
"id": "C0031911",
"name": "Pigmentation",
"pos": [
120,
12
]
} |
Effects of rhGH on IGF1 levels, body composition (body fat percentage, BF%), body mass index, lipid profile, and glucose homeostasis (fasting insulin and glucose, insulin sensitivity indexes) were evaluated according to the presence or the absence of the d3GHR variant. | NA | {
"id": 3479,
"name": "IGF1",
"pos": [
19,
4
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
163,
19
]
} |
Heterozygous mutations in the coding regions of the telomerase genes, TERT and TERC, have been found in familial and sporadic cases of idiopathic interstitial pneumonia. | NA | {
"id": 7012,
"name": "TERC",
"pos": [
79,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
117,
8
]
} |
Median C-reactive protein concentrations decreased, after weight reduction, from 1.72 to 1.22 mg/l (p < 0.02). | NA | {
"id": 1401,
"name": "CRP",
"pos": [
7,
18
]
} | {
"id": "C1262477",
"name": "Weight decreased",
"pos": [
58,
16
]
} |
In another Finnish family with molar tooth agenesis, we could not find similar sequence changes in PAX9. | NA | {
"id": 5083,
"name": "PAX9",
"pos": [
99,
4
]
} | {
"id": "C4083050",
"name": "Tooth agenesis",
"pos": [
37,
14
]
} |
To determine whether the polymorphisms in TGF-beta(2) are associated with childhood atopic bronchial asthma in a Japanese population. | NA | {
"id": 7040,
"name": "TGFB1",
"pos": [
42,
8
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
84,
6
]
} |
Our results highlight a locus on 16p12.3, with several single-nucleotide polymorphisms (SNPs) in the vicinity of CLEC19A showing association (P<1 × 10(-6)) with smoking quantity. | NA | {
"id": 728276,
"name": "CLEC19A",
"pos": [
113,
7
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
161,
7
]
} |
We evaluated the role of miR-122 and cyclin G1 expression in hepatocarcinogenesis and in response to treatment with doxorubicin and their relevance on survival and time to recurrence (TTR) of HCC patients. | NA | {
"id": 7276,
"name": "TTR",
"pos": [
184,
3
]
} | {
"id": "C1512409",
"name": "Hepatocarcinogenesis",
"pos": [
61,
20
]
} |
Although the hyperleptinemia, lower hypothalamic JAK2 and pSTAT3 content of EW group were not corrected by mate treatment, the hyperphagia and higher hypothalamic SOCS-3 content were normalized in EW+ mate group, indicating that the central leptin resistance could be restored. | NA | {
"id": 9021,
"name": "SOCS3",
"pos": [
163,
6
]
} | {
"id": "C0020505",
"name": "Hyperphagia",
"pos": [
127,
11
]
} |
We studied 21 unrelated adults with CD (confirmed by anti-thyroglobulin antibodies and intestinal biopsy); 14 were evaluated at diagnosis, before diet modification, and seven after 2 years of a gluten-free diet. | biomarker | {
"id": 7038,
"name": "TG",
"pos": [
58,
13
]
} | {
"id": "C0007570",
"name": "Celiac Disease",
"pos": [
36,
2
]
} |
Specifically, we found eight genes that were differentially expressed after treatment with both E₂ and T₃, including amphiregulin, fibulin 1, claudin 6, pericentriolar material 1, premature ovarian failure 1B, factor for adipocyte differentiation-104, sterile alpha motif domain containing 9, and likely ortholog of rat vacuole membrane protein 1 (fold change > 2.0, pFDR < 0.05). | NA | {
"id": 5108,
"name": "PCM1",
"pos": [
153,
25
]
} | {
"id": "C0025322",
"name": "Premature Menopause",
"pos": [
180,
25
]
} |
Modeled microgravity suppressed invasion and migration of human glioblastoma U87 cells through downregulating store-operated calcium entry. | NA | {
"id": 677775,
"name": "SCARNA5",
"pos": [
77,
3
]
} | {
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
64,
12
]
} |
Here we report and associate the presence of the p.Y1449C SCN5A mutation in a single family with a spectrum of cardiac phenotypes including conduction disease, Brugada syndrome and atrial arrhythmias, for the first time to our knowledge. | NA | {
"id": 6331,
"name": "SCN5A",
"pos": [
58,
5
]
} | {
"id": "C0085611",
"name": "Atrial arrhythmia",
"pos": [
181,
18
]
} |
Meanwhile, CAR-T therapy-related toxicities, including cytokine release syndrome (CRS) and neurological toxicities, are drawing researchers' attention. | genomic_alterations | {
"id": 5573,
"name": "PRKAR1A",
"pos": [
11,
3
]
} | {
"id": "C0948245",
"name": "Cytokine Release Syndrome",
"pos": [
55,
25
]
} |
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